DK Phocomelia Syndrome
Symptoms, Doctors, Treatments, Advances & More

DK Phocomelia Syndrome Overview

Definition
Alternate Names
Top Doctors
Clinical Trials
Source Of Information
Latest Advances

Save information for later

Learn About DK Phocomelia Syndrome

What is the definition of DK Phocomelia Syndrome?

DK phocomelia syndrome is a very rare disorder characterized by shortened or absent arms (phocomelia), sac-like protrusions of the brain and the membranes that cover it through openings in the skull (encephalocele), variable brain abnormalities, urogenital abnormalities, and abnormally low platelets (thrombocytopenia). Intellectual development is usually normal. As of May 2010, less than 15 cases have been reported. The exact cause of this condition is unknown; but autosomal recessive inheritance has been suggested.

What are the alternative names for DK Phocomelia Syndrome?

DK phocomelia syndrome
Phocomelia thrombocytopenia encephalocele and urogenital malformations
Von Voss Cherstvoy syndrome

Who are the top DK Phocomelia Syndrome Local Doctors?

Advanced in DK Phocomelia Syndrome

Dr. Alvaro H. Russi

Pediatrics

Advanced in DK Phocomelia Syndrome

Dr. Alvaro H. Russi

Pediatrics

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd,

Johnson City, TN

423-439-7320

Languages Spoken:

English

See accepted insurances

. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of DK Phocomelia Syndrome. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

Experienced in DK Phocomelia Syndrome

Dr. Donald J. Weaver

Pediatric Nephrology

Experienced in DK Phocomelia Syndrome

Dr. Donald J. Weaver

Pediatric Nephrology

Atrium Health Levine Children's Nephrology

1001 Blythe Blvd., Suite C,

Charlotte, NC

704-381-8800

Languages Spoken:

English

See accepted insurances

Accepting New Patients

Offers Telehealth

Donald Weaver is a Pediatric Nephrologist practicing medicine in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of DK Phocomelia Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is board certified in American Board Of Pediatrics and American Board Of Pediatrics, Pediatric Nephrology. Dr. Weaver is currently accepting new patients.

Learn about our expert tiers

Learn More

Experienced in DK Phocomelia Syndrome

Dr. Sunil Pauwaa

Advanced Heart Failure and Transplant Cardiology

Experienced in DK Phocomelia Syndrome

Dr. Sunil Pauwaa

Advanced Heart Failure and Transplant Cardiology

Advocate Heart Institute

10837 S Cicero Ave, Ste 200,

Oak Lawn, IL

708-636-7575

Languages Spoken:

English

See accepted insurances

Sunil Pauwaa is an Advanced Heart Failure and Transplant Cardiologist practicing medicine in Oak Lawn, Illinois. Dr. Pauwaa is rated as an Experienced provider by MediFind in the treatment of DK Phocomelia Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Heart Failure, Pulmonary Hypertension, Pulmonary Veno-Occlusive Disease, Hypertensive Heart Disease, and Heart Transplant. Dr. Pauwaa is board certified in American Board Of Internal Medicine, Advanced Heart Failure And Transplant Cardiology.